Tay-Sachs disease


This week id like id like to talk about a genetic disorder called Tay-Sachs Disease.  Tay-Sachs disease is a rare genetic disorder that progressively destroys nerve cells referred to as neurons in the brain and spinal cord.

Tay-Sachs disease is caused by a mutation in the HEXA gene. The HEXA gene provides instructions for making part of an enzyme called beta-hexosaminidase A which plays a significant role in the spinal cord and brain. Mutations in the HEXA gene disrupts the activity of beta-hexosaminidase A which the prevents the enzyme from breaking down GM2 ganglioside. This results in an accumulation of GM2 ganglioside in the neurons of the brain and spinal cord. The progressive buildup of GM2 ganglioside leads to the mass destruction of these neurons causing the various symptoms of Tay-Sachs syndrome.

The most common form of Tay-Sachs disease becomes apparent in infancy. Infants who acquire this disorder usually appear to be normal until they reach the age of 3-6 months. When a child who has acquired this disease reaches this age their development slows down and their muscles used for movement begin to weaken. When an infant begins to show signs of Tay-Sachs disease, they first lose motor skills such as turning over, sitting up, and crawling. As the disease progresses, the child will begin to experience seizures, hearing loss, vision loss, cognitive disability, and paralysis.

This form of Tay-Sachs disease is rarely seen in the general population. The genetic mutation responsible for Tay-Sachs disease is commonly seen in people of Ashkenazi Jewish heritage. It has been prevalent in certain parts of Quebec, Pennsylvania, and Louisiana. The mutation is inherited in an autosomal recessive pattern, meaning that two copies of the gene in each cell are altered. Most often the parents who produce a child with Tay-Sachs disease both carry one copy of the altered gene but do not show signs or symptoms.

There is no known cure for Tay-Sachs disease, but there are several programs in place to help children living with this disease as comfortable as possible. These treatment programs usually focus on preventing complications with the lungs and airways, relieving dysphagia, and reducing the number of seizures experienced.


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